Concluding Remarks
Over the past seven years, the MME has made outstanding contributions to
the discovery of novel disease-gene relationships and is relied on
heavily by both the research and clinical rare disease communities.
Moving forward, there are opportunities to improve the efficiency of the
MME, particularly by encouraging all submissions to share phenotypic and
inheritance information with submissions. Although most nodes in MME
have from the outset included information about phenotype and
inheritance alongside variant submissions, most entries in GeneMatcher,
the most widely used node, have not, and therefore we call on the
community to quickly move in this direction. Genomic matchmaking
approaches continue to evolve and novel approaches to discovery are now
underway to ensure that no dataset gets left behind. Connections to
literature, model organism resources and scientists, as well as
patient-driven matchmaking are all innovative approaches contributing to
the ultimate goal of being able to provide diagnostic clarity,
biological insight, and social support for the thousands of rare genetic
diseases.